电邮这篇文章 GRIN1基因多态性在创伤后癫痫形成中的作用研究
- 作者: Gazaryan L.M.1, Selyanina N.V.1, Karakulova Y.V.1, Sosnin D.Y.1
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隶属关系:
- Perm State Medical University named after Academician E. A. Wagner
- 期: 卷 29, 编号 4 (2021)
- 页面: 449-456
- 栏目: Original study
- URL: https://journal-vniispk.ru/pavlovj/article/view/63933
- DOI: https://doi.org/10.17816/PAVLOVJ63933
- ID: 63933
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详细
绪论NMDA受体在癫痫发作的发病机制中发挥着特殊的作用，其中一个亚单位由GRIN1基因编码。GRIN1基因的突变已知存在于各种形式的癫痫和脑病患者中。同时，没有关于GRIN1及其多态性参与创伤后癫痫（PTE）发展的数据。
目的：GRIN1基因单核苷酸多态性rs 1126442对创伤后癫痫风险影响的测定。
材料与方法：140例患者中69例为创伤后癫痫，71例为遗传性癫痫（GE）。所有受试者均接受综合检查，评估记忆、神经系统状态、脑电图（EEG）和神经影像学结果，并实时聚合酶链反应对血样进行基因分型。基因研究的对照对象是60名健康个体的静脉血。
结果：在创伤后癫痫患者中，局灶性癫痫转移至双侧强直-阵挛性癫痫发作为主。根据神经影像学资料，发现营养不良、囊性、囊性与神经胶质囊肿及外部性脑积水征象。在脑电图中记录发作间断性和发作性癫痫样活动，以及θ波减速。通过对GRIN1基因rs 1126442多态性进行基因分型，根据共显性遗传模型（OR=3.43; 95% (CI): 1.56—7.55; p=0.0047）、显性遗传（OR=3.24; 95% (CI): 1.57–6.68; p=0.0011）、超显性遗传（OR=2.90; 95% CI: 1.36–6.22; p=0.0048）， 创伤后癫痫患者以G/A杂合型和A/A纯合型为主。 GRIN1基因杂合子基因型G/A rs 1126442的携带与所有癫痫患者脑电图上癫痫样活动的记录有关（OR=2.40; 95% (CI): 1.11—5.20; p=0.024）。
结论：根据显性和共显性遗传模型，携带杂合基因型G/A和纯合基因型A/A rs 1126442 GRIN1与创伤性脑损伤后癫痫的高风险有关，而GRIN1基因杂合基因型G/A rs 1126442的携带与脑电图上癫痫样活动的记录有关。
作者简介
Lilit Gazaryan
Perm State Medical University named after Academician E. A. Wagner
Email: gazaryan_km@mail.ru
ORCID iD: 0000-0002-3970-3382
SPIN 代码: 5047-3702
俄罗斯联邦, Perm
Natalia Selyanina
Perm State Medical University named after Academician E. A. Wagner
编辑信件的主要联系方式.
Email: nselyanina@mail.ru
ORCID iD: 0000-0002-2317-7808
SPIN 代码: 9379-1027
MD, Dr. Sci. (Med.), Associate Professor
俄罗斯联邦, PermYuliya Karakulova
Perm State Medical University named after Academician E. A. Wagner
Email: julia.karakulova@mail.ru
ORCID iD: 0000-0002-7536-2060
SPIN 代码: 5066-6556
MD, Dr. Sci. (Med.), Professor
俄罗斯联邦, PermDmitriy Sosnin
Perm State Medical University named after Academician E. A. Wagner
Email: sosnin_dm@mail.ru
ORCID iD: 0000-0002-1232-8826
SPIN 代码: 4204-6796
MD, Dr. Sci. (Med.), Associate Professor
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